“The first patient dosed is an important milestone for the Gaucher disease community and our AVR-RD-02 program,” Geoff MacKay, president and CEO of Avrobio, said in a press release.
The study, known as GuardOne (NCT04145037), is expected to enroll up to 16 people with Gaucher type 1, ages 16 to 35, all of whom will be treated with AVR-RD-02.
It will assess the therapy’s effectiveness and safety, and is recruiting both patients using enzyme replacement therapy for at least two years (and stable for the previous six months), and those not using either that treatment or substrate reduction therapy for at least one year at the time of screening.
GuardOne is recruiting at sites in Canada and Australia, with plans to open new sites in Israel and the U.S. by year’s end. Information about contacts and study locations can be found here.
Gaucher disease type 1, which accounts for about 90% of all Gaucher disease cases, is caused by mutations in the GBA gene. This gene codes for an enzyme called beta-glucocerebrosidase (GCase) that breaks down a fatty substance called glucocerebroside. Gaucher patients are unable to break down glucocerebroside, and it builds in immune cells known as macrophages, a type of white blood cell.
AVR-RD-02 is designed to deliver a non-mutated copy of the GBA gene to a patient’s cells, ultimately allowing glucocerebroside to be broken down as it should.
The process begins with hematopoietic stem cells (blood cell precursors) being collected. Then, using Avrobio’s plato platform, these cells are modified via a specially engineered virus — a lentivirus — that is used to deliver a healthy GBA gene to each cell. Finally, the modified cells are reintroduced to the patient with an aim of restoring GCase production.
“While the current treatments for Gaucher disease — enzyme replacement therapy and substrate reduction therapy — have been life changing, many unmet needs remain that significantly impact the daily lives of patients and families living with Gaucher disease,” said Christine White, the executive director of the National Gaucher Foundation of Canada.
“We welcome clinical trials of new therapeutics that have the potential to stop the progression of Gaucher disease and are excited to learn more about the potential use of this lentiviral gene therapy,” White added.
Avrobio also announced that a second patient has been dosed in its Phase 1/2 study of an investigational gene therapy for cystinosis (NCT03897361), and that enrollment efforts are again underway in a Phase 2 trial of AVR-RD-01 (NCT03454893), a potential gene therapy for people with Fabry disease.
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